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中文人类
SETX - Senataxin
Alias:
ALS4
AOA2
STEX
Sen1
SCAN2
SCAR1
bA479K20.2
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这个基因编码一个名为Sen1p的蛋白质，该蛋白质与真菌的Sen1p蛋白质具有同源性，具有RNA解旋酶活性，该活性由蛋白质C端末的一个结构域编码。这个基因编码的蛋白质在其C端含有DNA/RNA解旋酶结构域，这表明它可能涉及DNA和RNA的加工。这个基因的突变与共济失调-眼动障碍-2（AOA2）和常染色体显性青少年肌萎缩侧索硬化症（ALS4）有关。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SETX Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
